Canonical Allele Identifier: CA403152999
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7525150-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525150T>C , CM000681.2:g.7525150T>C GRCh38
NC_000019.9:g.7590036T>C , CM000681.1:g.7590036T>C GRCh37
NC_000019.8:g.7496036T>C NCBI36
NG_015806.1:g.7541T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.221T>C MANE Select ENSP00000264079.5:p.Leu74Pro
ENST00000264079.10:c.221T>C ENSP00000264079.5:p.Leu74Pro
ENST00000394321.9:n.301T>C
ENST00000596390.1:n.337T>C
ENST00000601003.1:c.221T>C ENSP00000469074.1:p.Leu74Pro
NM_020533.2:c.221T>C NP_065394.1:p.Leu74Pro
NM_020533.3:c.221T>C MANE Select NP_065394.1:p.Leu74Pro